Literature DB >> 28317263

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Lisa Karger1, Wahab A Khan1, Rafaela Calabio2, Ram Singh1, Bixia Xiang1, Arvind Babu1, Ninette Cohen1, Amy C Yang1, Stuart A Scott1.   

Abstract

Entities:  

Keywords:  CATSPER2; Prader-Willi syndrome; STRC; chromosome 15; deafness-infertility syndrome; uniparental disomy

Mesh：

Substances：

Year:  2017        PMID： 28317263      PMCID： PMC5397338          DOI： 10.1002/ajmg.a.38154

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  19 in total

1.  Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.

Authors:  Sun Young Cho; Denise Li-Meng Goh; Kin-Chong Lau; Hian Tat Ong; Ching-Wan Lam
Journal:  Clin Chim Acta       Date:  2013-08-29       Impact factor: 3.786

2.  Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency.

Authors:  Noémie Laverdure; Alain Dabadie; Marie Pierre Alex-Cordier; Sylvie Odent; Alain Lachaux
Journal:  Clin Res Hepatol Gastroenterol       Date:  2014-03-11       Impact factor: 2.947

3.  Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

Authors:  Jeffrey J Swensen; Archana M Agarwal; Jose M Esquilin; Sabina Swierczek; Ajay Perumbeti; Dottie Hussey; Margaret Lee; Clinton H Joiner; Genevieve Pont-Kingdon; Elaine Lyon; Josef T Prchal
Journal:  Blood       Date:  2010-07-01       Impact factor: 22.113

4.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

5.  The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Authors:  M Gunay-Aygun; S Schwartz; S Heeger; M A O'Riordan; S B Cassidy
Journal:  Pediatrics       Date:  2001-11       Impact factor: 7.124

Review 6.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

7.  Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Authors:  S B Cassidy; L W Lai; R P Erickson; L Magnuson; E Thomas; R Gendron; J Herrmann
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

8.  Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder.

Authors:  Keiko Matsubara; Naoki Kataoka; Satoko Ogita; Shinichiro Sano; Tsutomu Ogata; Maki Fukami; Noriyuki Katsumata
Journal:  Endocr J       Date:  2014-03-13       Impact factor: 2.349

9.  Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.

Authors:  Merlin G Butler; William Fischer; Nataliya Kibiryeva; Douglas C Bittel
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

10.  Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.

Authors:  Wahab A Khan; Joan Hm Knoll; Peter K Rogan
Journal:  Mol Cytogenet       Date:  2011-08-08       Impact factor: 2.009
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  1 in total

1.  Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.

Authors:  Lisong Shi; Yan Bai; Yara Kharbutli; Andrea M Oza; Sami S Amr; Lisa Edelmann; Lakshmi Mehta; Stuart A Scott
Journal:  Mol Genet Genomic Med       Date:  2019-06-19       Impact factor: 2.183
  1 in total

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